LGMDD1
MCID: MSC175
MIFTS: 47

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 (LGMDD1)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 57 72
Muscular Dystrophy, Limb-Girdle, Type 1e 57 72 13 70
Lgmd1d 12 20 58 72
Limb-Girdle Muscular Dystrophy Type 1d 20 58 72
Lgmd1e 57 20 72
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 12 20
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 20 58
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1 12 15
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 20 58
Muscular Dystrophy, Limb-Girdle, Type 1d 72 70
Limb-Girdle Muscular Dystrophy, Type 1e 29 6
Dnajb6-Related Lgmd D1 20 58
Lgmd Type 1d 20 58
Lgmdd1 57 72
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly; Lgmd1d, Formerly 57
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 39
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly 57
Muscular Dystrophy, Limb-Girdle, Type 1e; Lgmd1e 57
Dystrophy, Muscular, Limb-Girdle, Type 1e 39
Muscular Dystrophy Limb-Girdle Type 1d 12
Muscular Dystrophy Limb-Girdle Type 1e 12
Limb-Girdle Muscular Dystrophy Type 1e 20
Limb-Girdle Muscular Dystrophy 1e 72
Lgmd1d, Formerly 57

Characteristics:

Orphanet epidemiological data:

58
dnajb6-related limb-girdle muscular dystrophy d1
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range childhood to adult)
most patients become wheelchair-bound after 20 to 30 years


HPO:

31
muscular dystrophy, limb-girdle, autosomal dominant 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110305
OMIM® 57 603511
OMIM Phenotypic Series 57 PS603511
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C3501858
Orphanet 58 ORPHA34516
UMLS 70 C3148763 C3501858

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

OMIM® : 57 Autosomal dominant limb-girdle muscular dystrophy is characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by Ruggieri et al., 2015). (603511) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1, also known as muscular dystrophy, limb-girdle, type 1e, is related to myopathy, myofibrillar, 1 and muscular dystrophy, limb-girdle, type 1h, and has symptoms including waddling gait An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Cellular response to heat stress. Affiliated tissues include skeletal muscle, and related phenotypes are generalized muscle weakness and dysarthria

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal dominant 1: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 31.5 MYOT DNAJB6 CAPN3 BAG3
2 muscular dystrophy, limb-girdle, type 1h 31.1 TNPO3 MYOT DNAJB6 CAV3
3 muscular dystrophy, limb-girdle, autosomal dominant 3 31.1 TNPO3 MYOT DNAJB6 CAV3
4 muscular dystrophy, limb-girdle, autosomal dominant 2 30.2 TNPO3 MYOT DYSF DNAJB6 CAV3 CAPN3
5 limb-girdle muscular dystrophy 29.8 MYOT DYSF CAV3 CAPN3
6 miyoshi muscular dystrophy 28.9 MYOT HSPB8 DYSF CAV3 CAPN3
7 muscular dystrophy 28.8 TNPO3 MYOT HSPB8 DYSF DNAJB6 CAV3
8 myofibrillar myopathy 28.7 MYOT HSPB8 DYSF DNAJB6 CRYAA CAPN3
9 autosomal dominant limb-girdle muscular dystrophy 28.6 TNPO3 RNF32 MYOT DNAJB6 DNAJB1 CAV3
10 myopathy 28.3 TNPO3 MYOT HSPB8 DYSF DNAJB6 DNAJB1
11 myopathy, spheroid body 10.2 MYOT BAG3
12 neuronopathy, distal hereditary motor, type iia 10.2 HSPB8 CRYAA
13 neuronopathy, distal hereditary motor, type i 10.2 UBE3C RNF32
14 myopathy, myofibrillar, 4 10.2 MYOT BAG3
15 autosomal recessive limb-girdle muscular dystrophy type 2w 10.2 TNPO3 MYOT
16 charcot-marie-tooth disease, axonal, type 2l 10.2 HSPB8 CRYAA
17 giant axonal neuropathy 2 10.2 HSPB8 BAG3
18 dysphagia 10.1
19 foot drop 10.1 MYOT DYSF
20 autosomal dominant distal hereditary motor neuronopathy 10.1 RNF32 HSPB8
21 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TNPO3 MYOT DNAJB6
22 myopathy, myofibrillar, 6 10.0 TNPO3 HSPB8 BAG3
23 limb-girdle muscular dystrophy type 1c 10.0 DYSF CAV3
24 myopathy, centronuclear, 1 10.0 MYOT DYSF DNAJB6
25 distal hereditary motor neuronopathy type 2 9.9 HSPB8 CRYAA
26 dysferlinopathy 9.9 DYSF CAPN3
27 muscular dystrophy, limb-girdle, autosomal recessive 4 9.9 DYSF CAPN3
28 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 DYSF CAPN3
29 rippling muscle disease 2 9.9 DYSF CAV3
30 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 DYSF CAPN3
31 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 MYOT DYSF CAV3
32 miyoshi muscular dystrophy 3 9.9 DYSF CAPN3
33 charcot-marie-tooth disease, axonal, type 2k 9.9 HSPB8 DNAJB2
34 myopathy, myofibrillar, 9, with early respiratory failure 9.9 MYOT DNAJB6 CAPN3 BAG3
35 myopathy, myofibrillar, 2 9.8 MYOT HSPB8 DNAJB6 CRYAA BAG3
36 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 MYOT DYSF CAPN3
37 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 MYOT DYSF CAPN3
38 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 MYOT DYSF CAPN3
39 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 MYOT DYSF CAPN3
40 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 MYOT DYSF CAPN3
41 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 MYOT DYSF CAPN3
42 tibial muscular dystrophy 9.8 MYOT DYSF CAPN3
43 progressive muscular atrophy 9.8 CAV3 CAPN3
44 emery-dreifuss muscular dystrophy 9.8 MYOT DYSF CAPN3
45 ullrich congenital muscular dystrophy 1 9.8 DYSF CRYAA CAPN3
46 charcot-marie-tooth disease, axonal, type 2b2 9.8 HSPB8 DNAJB2
47 creatine phosphokinase, elevated serum 9.7 CAV3 CAPN3
48 nonaka myopathy 9.7 MYOT DYSF DNAJB6 CAPN3
49 rigid spine muscular dystrophy 1 9.7 MYOT DYSF CAPN3 BAG3
50 bethlem myopathy 1 9.6 MYOT DYSF CRYAA CAPN3

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
5 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
6 rimmed vacuoles 58 31 occasional (7.5%) Occasional (29-5%) HP:0003805
7 myofibrillar myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003715
8 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
9 fatty replacement of skeletal muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0012548
10 skeletal muscle fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030951
11 facial palsy 31 occasional (7.5%) HP:0010628
12 flexion contracture 31 occasional (7.5%) HP:0001371
13 dyspnea 31 occasional (7.5%) HP:0002094
14 bulbar palsy 31 occasional (7.5%) HP:0001283
15 percussion myotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0010548
16 elevated serum creatine kinase 31 HP:0003236
17 waddling gait 31 HP:0002515
18 pelvic girdle muscle weakness 31 HP:0003749
19 muscular dystrophy 31 HP:0003560
20 abnormality of muscle fibers 58 Very rare (<4-1%)
21 gowers sign 31 HP:0003391
22 muscle fiber splitting 31 HP:0003555
23 shoulder girdle muscle weakness 31 HP:0003547

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
waddling gait
rimmed vacuoles
gowers sign
difficulty climbing stairs
shoulder girdle muscle weakness
more
Abdomen Gastrointestinal:
dysphagia (less common)

Head And Neck Face:
facial weakness (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal:
contractures (in some patients)

Respiratory:
respiratory difficulties, later onset (in some patients)
dyspnea (in some patients)

Clinical features from OMIM®:

603511 (Updated 20-May-2021)

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:


waddling gait

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased p24 protein expression GR00163-A-1 8.8 DNAJB1 DYSF TNPO3

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1e 29 DNAJB6

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

(show all 43)
# Title Authors PMID Year
1
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. 61 6 57
26205529 2015
2
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. 6 57 61
22366786 2012
3
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. 61 57 6
21376592 2011
4
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. 6 57 61
20682716 2010
5
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. 57 6
24594375 2014
6
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. 6 57
22334415 2012
7
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. 57 6
10489050 1999
8
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. 57 6
9973293 1999
9
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D. 61 6
26847086 2016
10
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D. 61 57
26362252 2015
11
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype. 6 61
26371419 2015
12
Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers. 61 6
24920671 2014
13
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
14
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation. 6
28794355 2017
15
A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function. 6
28233300 2017
16
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. 6
27671536 2016
17
Ins and outs of therapy in limb girdle muscular dystrophies. 57
17339125 2007
18
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. 57
12467737 2003
19
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. 57
11039585 2000
20
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. 57
8533766 1995
21
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. 57
1598902 1992
22
Adult-onset autosomal dominant limb-girdle muscular dystrophy. 57
3752967 1986
23
Familial muscular dystrophy of late onset. 57
5551698 1971
24
Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Clinical, pathologic and linkage considerations. 57
5780363 1969
25
Hereditary myopathy limited to females. 57
6053567 1967
26
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type. 61
31034989 2020
27
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D. 61
31123706 2019
28
The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations. 61
30187711 2018
29
Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations. 61
30187710 2018
30
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation. 61
30838352 2018
31
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. 61
29869469 2018
32
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. 61
29437287 2018
33
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies. 61
27747217 2016
34
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease. 61
26338452 2015
35
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
36
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
37
DNAJB6 myopathy: a vacuolar myopathy with childhood onset. 61
24170373 2014
38
Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease. 61
25324776 2014
39
'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D. 61
23865856 2013
40
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions. 61
23394708 2013
41
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 61
22275259 2012
42
[Limb girdle muscular dystrophies]. 61
15316618 2004
43
[LGMD1D]. 61
11555996 2001

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

6 (show top 50) (show all 139)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJB6 NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu) SNV Pathogenic 30904 rs387907046 GRCh37: 7:157160108-157160108
GRCh38: 7:157367414-157367414
2 DNAJB6 NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg) SNV Pathogenic 30905 rs387907047 GRCh37: 7:157160118-157160118
GRCh38: 7:157367424-157367424
3 DNAJB6 NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu) SNV Pathogenic 31529 rs149278319 GRCh37: 7:157160110-157160110
GRCh38: 7:157367416-157367416
4 DNAJB6 NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu) SNV Pathogenic 31530 rs149278319 GRCh37: 7:157160110-157160110
GRCh38: 7:157367416-157367416
5 DNAJB6 NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile) SNV Pathogenic 31531 rs387907150 GRCh37: 7:157160096-157160096
GRCh38: 7:157367402-157367402
6 DNAJB6 NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile) SNV Pathogenic 225175 rs869320701 GRCh37: 7:157160102-157160102
GRCh38: 7:157367408-157367408
7 DNAJB6 NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu) SNV Pathogenic 225176 rs759982570 GRCh37: 7:157160104-157160104
GRCh38: 7:157367410-157367410
8 DNAJB6 NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val) SNV Pathogenic 225174 rs869320700 GRCh37: 7:157160129-157160129
GRCh38: 7:157367435-157367435
9 DNAJB6 NM_058246.4(DNAJB6):c.346+5G>A SNV Pathogenic 225177 rs869320702 GRCh37: 7:157160182-157160182
GRCh38: 7:157367488-157367488
10 DNAJB6 NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) SNV Likely pathogenic 498056 rs869320701 GRCh37: 7:157160102-157160102
GRCh38: 7:157367408-157367408
11 DNAJB6 NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp) SNV Likely pathogenic 830317 GRCh37: 7:157160067-157160067
GRCh38: 7:157367373-157367373
12 DNAJB6 NM_058246.4(DNAJB6):c.176-10C>A SNV Uncertain significance 838617 GRCh37: 7:157159186-157159186
GRCh38: 7:157366492-157366492
13 DNAJB6 NM_058246.4(DNAJB6):c.790C>T (p.Arg264Trp) SNV Uncertain significance 839693 GRCh37: 7:157202587-157202587
GRCh38: 7:157409893-157409893
14 DNAJB6 NM_058246.4(DNAJB6):c.476C>T (p.Thr159Ile) SNV Uncertain significance 359453 rs199651553 GRCh37: 7:157175069-157175069
GRCh38: 7:157382375-157382375
15 DNAJB6 NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met) SNV Uncertain significance 286043 rs149027078 GRCh37: 7:157175003-157175003
GRCh38: 7:157382309-157382309
16 DNAJB6 NM_058246.4(DNAJB6):c.40G>T (p.Ala14Ser) SNV Uncertain significance 849625 GRCh37: 7:157151306-157151306
GRCh38: 7:157358612-157358612
17 DNAJB6 NM_058246.4(DNAJB6):c.676T>G (p.Ser226Ala) SNV Uncertain significance 857062 GRCh37: 7:157178290-157178290
GRCh38: 7:157385596-157385596
18 DNAJB6 NM_058246.4(DNAJB6):c.713_730dup (p.Leu238_Met243dup) Duplication Uncertain significance 859821 GRCh37: 7:157202508-157202509
GRCh38: 7:157409814-157409815
19 DNAJB6 NM_058246.4(DNAJB6):c.*636T>G SNV Uncertain significance 908605 GRCh37: 7:157209428-157209428
GRCh38: 7:157416734-157416734
20 DNAJB6 NM_058246.4(DNAJB6):c.*664A>G SNV Uncertain significance 908606 GRCh37: 7:157209456-157209456
GRCh38: 7:157416762-157416762
21 DNAJB6 NM_058246.4(DNAJB6):c.-77G>A SNV Uncertain significance 909311 GRCh37: 7:157129788-157129788
GRCh38: 7:157337094-157337094
22 DNAJB6 NM_058246.4(DNAJB6):c.*965T>C SNV Uncertain significance 909464 GRCh37: 7:157209757-157209757
GRCh38: 7:157417063-157417063
23 DNAJB6 NM_058246.4(DNAJB6):c.230G>A (p.Gly77Glu) SNV Uncertain significance 910286 GRCh37: 7:157159250-157159250
GRCh38: 7:157366556-157366556
24 DNAJB6 NM_058246.4(DNAJB6):c.*215C>T SNV Uncertain significance 910345 GRCh37: 7:157209007-157209007
GRCh38: 7:157416313-157416313
25 DNAJB6 NM_058246.4(DNAJB6):c.*243T>C SNV Uncertain significance 910346 GRCh37: 7:157209035-157209035
GRCh38: 7:157416341-157416341
26 DNAJB6 NM_058246.4(DNAJB6):c.*299A>G SNV Uncertain significance 910347 GRCh37: 7:157209091-157209091
GRCh38: 7:157416397-157416397
27 DNAJB6 NM_058246.4(DNAJB6):c.*307G>A SNV Uncertain significance 910348 GRCh37: 7:157209099-157209099
GRCh38: 7:157416405-157416405
28 DNAJB6 NM_058246.4(DNAJB6):c.*1008G>A SNV Uncertain significance 910405 GRCh37: 7:157209800-157209800
GRCh38: 7:157417106-157417106
29 DNAJB6 NM_058246.4(DNAJB6):c.844G>A (p.Glu282Lys) SNV Uncertain significance 911502 GRCh37: 7:157202641-157202641
GRCh38: 7:157409947-157409947
30 DNAJB6 NM_058246.4(DNAJB6):c.885C>G (p.Leu295=) SNV Uncertain significance 911503 GRCh37: 7:157202682-157202682
GRCh38: 7:157409988-157409988
31 DNAJB6 NM_058246.4(DNAJB6):c.*502A>G SNV Uncertain significance 911556 GRCh37: 7:157209294-157209294
GRCh38: 7:157416600-157416600
32 DNAJB6 NM_058246.4(DNAJB6):c.*513C>T SNV Uncertain significance 911557 GRCh37: 7:157209305-157209305
GRCh38: 7:157416611-157416611
33 DNAJB6 NM_058246.4(DNAJB6):c.939_942del (p.Glu314fs) Microsatellite Uncertain significance 931297 GRCh37: 7:157208746-157208749
GRCh38: 7:157416052-157416055
34 DNAJB6 NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val) SNV Uncertain significance 500303 rs575604496 GRCh37: 7:157155938-157155938
GRCh38: 7:157363244-157363244
35 DNAJB6 NM_058246.4(DNAJB6):c.862G>A (p.Ala288Thr) SNV Uncertain significance 290169 rs371808471 GRCh37: 7:157202659-157202659
GRCh38: 7:157409965-157409965
36 DNAJB6 NM_058246.4(DNAJB6):c.883C>G (p.Leu295Val) SNV Uncertain significance 943433 GRCh37: 7:157202680-157202680
GRCh38: 7:157409986-157409986
37 DNAJB6 NM_058246.4(DNAJB6):c.66A>G (p.Ala22=) SNV Uncertain significance 943547 GRCh37: 7:157155855-157155855
GRCh38: 7:157363161-157363161
38 DNAJB6 NM_058246.4(DNAJB6):c.388C>T (p.Arg130Ter) SNV Uncertain significance 950078 GRCh37: 7:157174981-157174981
GRCh38: 7:157382287-157382287
39 DNAJB6 NM_058246.4(DNAJB6):c.343T>C (p.Phe115Leu) SNV Uncertain significance 959575 GRCh37: 7:157160174-157160174
GRCh38: 7:157367480-157367480
40 DNAJB6 NM_058246.4(DNAJB6):c.66-3A>C SNV Uncertain significance 961702 GRCh37: 7:157155852-157155852
GRCh38: 7:157363158-157363158
41 DNAJB6 NM_058246.4(DNAJB6):c.142C>G (p.Gln48Glu) SNV Uncertain significance 963673 GRCh37: 7:157155931-157155931
GRCh38: 7:157363237-157363237
42 DNAJB6 NM_058246.4(DNAJB6):c.203A>G (p.Tyr68Cys) SNV Uncertain significance 804750 rs531186856 GRCh37: 7:157159223-157159223
GRCh38: 7:157366529-157366529
43 DNAJB6 NM_058246.4(DNAJB6):c.721G>A (p.Glu241Lys) SNV Uncertain significance 288191 rs886043824 GRCh37: 7:157202518-157202518
GRCh38: 7:157409824-157409824
44 DNAJB6 NM_058246.4(DNAJB6):c.949_951AAG[3] (p.Lys320del) Microsatellite Uncertain significance 288083 rs778749161 GRCh37: 7:157208759-157208761
GRCh38: 7:157416065-157416067
45 DNAJB6 NM_058246.4(DNAJB6):c.296T>C (p.Val99Ala) SNV Uncertain significance 998724 GRCh37: 7:157160127-157160127
GRCh38: 7:157367433-157367433
46 DNAJB6 NM_058246.4(DNAJB6):c.381G>T (p.Arg127Ser) SNV Uncertain significance 501446 rs747600463 GRCh37: 7:157174974-157174974
GRCh38: 7:157382280-157382280
47 DNAJB6 NM_058246.4(DNAJB6):c.114del (p.Asn38fs) Deletion Uncertain significance 1003621 GRCh37: 7:157155903-157155903
GRCh38: 7:157363209-157363209
48 DNAJB6 NM_058246.4(DNAJB6):c.621-7C>A SNV Uncertain significance 1019617 GRCh37: 7:157178228-157178228
GRCh38: 7:157385534-157385534
49 DNAJB6 NM_058246.4(DNAJB6):c.681A>C (p.Leu227Phe) SNV Uncertain significance 1031056 GRCh37: 7:157178295-157178295
GRCh38: 7:157385601-157385601
50 DNAJB6 NM_058246.4(DNAJB6):c.122A>G (p.Glu41Gly) SNV Uncertain significance 1038641 GRCh37: 7:157155911-157155911
GRCh38: 7:157363217-157363217

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

72
# Symbol AA change Variation ID SNP ID
1 DNAJB6 p.Phe89Ile VAR_067833 rs387907150
2 DNAJB6 p.Phe93Leu VAR_067834 rs387907046
3 DNAJB6 p.Pro96Arg VAR_067835 rs387907047

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.36 DNAJB2 DNAJB1 CRYAA
2
Show member pathways
11.03 DNAJB6 DNAJB1 BAG3
3 10.71 DYSF CAV3

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.93 TNPO3 RNF32 MYOT MLF1 HSPB8 DNAJB6
2 sarcolemma GO:0042383 9.43 MYOT DYSF CAV3
3 aggresome GO:0016235 9.37 RNF32 BAG3
4 chaperone complex GO:0101031 9.32 HSPB8 BAG3
5 T-tubule GO:0030315 9.13 DYSF CAV3 CAPN3
6 Z disc GO:0030018 9.02 MYOT DNAJB6 CAV3 CAPN3 BAG3

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.7 DNAJB6 DNAJB1 BAG3
2 muscle contraction GO:0006936 9.63 MYOT DYSF CAV3
3 cellular response to unfolded protein GO:0034620 9.51 HSPB8 BAG3
4 positive regulation of ATPase activity GO:0032781 9.5 DNAJB6 DNAJB2 DNAJB1
5 plasma membrane organization GO:0007009 9.49 DYSF CAV3
6 protein refolding GO:0042026 9.48 DNAJB2 CRYAA
7 plasma membrane repair GO:0001778 9.43 DYSF CAV3
8 T-tubule organization GO:0033292 9.4 DYSF CAV3
9 negative regulation of transcription from RNA polymerase II promoter in response to stress GO:0097201 9.37 DNAJB1 BAG3
10 muscle cell cellular homeostasis GO:0046716 9.33 CAV3 CAPN3 BAG3
11 positive regulation of aggrephagy GO:1905337 9.26 HSPB8 BAG3
12 regulation of cellular response to heat GO:1900034 9.26 HSPB8 DNAJB6 DNAJB1 BAG3
13 negative regulation of inclusion body assembly GO:0090084 8.8 DNAJB6 DNAJB2 DNAJB1

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.1 UBE3C TNPO3 RNF32 MYOT MLF1 HSPB8
2 unfolded protein binding GO:0051082 9.46 DNAJB6 DNAJB2 DNAJB1 CRYAA
3 structural constituent of muscle GO:0008307 9.37 MYOT CAPN3
4 Hsp70 protein binding GO:0030544 9.32 DNAJB2 DNAJB1
5 ATPase activator activity GO:0001671 9.13 DNAJB6 DNAJB2 DNAJB1
6 chaperone binding GO:0051087 8.92 DNAJB6 DNAJB2 DNAJB1 BAG3

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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